Carrier Screening and Pregnancy Planning

Marie Claire Oct 01 2018

I’m Having Trouble Getting Pregnant—Should I Undergo Genetic Testing?

Marie Claire featured an article discussing Carrier screening this week. Carrier Screening is a DNA test that determines if a person contains a mutation causing a genetic disorder. Future children could be carriers or even have the genetic disorder. When both partners carry the same mutation, it increases the chance that the baby will be born with that disease. This test is beneficial prior to pregnancy as it can allow for time to research reproductive options if needed.

The American College of Obstetrician Gynecologists recommends carrier screening to women of child-bearing age. The disease they recommend testing for are cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy. Premier Genomics ACOG/ACMG ECS panel offers these three diseases plus 18 more. The ability to scale down and select certain diseases is a capability of Premier Genomics ACOG/ACMG ECS panel as well. Previously, carrier screening was done within ethnic populations at higher risk for genetic conditions. Also, this may have also included those with a family history of genetic disorders.

If both members of the couple are carriers of a specific genetic disorder, they may choose to pursue IVF. In doing so, Embryos created through IVF can be tested before implantation known as preimplantation genetic testing (PGT) to identify and select ones that are disease-free.